Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: vtg@telethonkids.org.au Respiratory ...

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• 2017 Update for the Vaccine Trials Group

It was an outbreak of a highly infectious disease that left the local hospital overrun with sick children. Harried staff were struggling to cope.  ...

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Bullying is now regarded as a health problem and not just a disciplinary problem. Increasing evidence shows both traditional bullying (e.g. hitting, teasing) and cyberbullying have lasting effects on young people (both those who bully and those who are bullied), including damage to self-esteem, academic results and mental health. ...

• 1. Telethon Kids Institute
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Gina Anna Heather Trapp Gannett Croll GT AG HC BHSc(Hons1A), RPHNutr, PhD BSc, MSc BHSc ARC DECRA Fellow & Head of Food and Nutrition Research ...

• 1. Telethon Kids Institute
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Mackenzie was 10 months old when her parents, Jodie and Scott, were given the life-changing news that their daughter would never walk. ...

• 1. Telethon Kids Institute
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• 2018
• November

Telethon Kids has recruited Dr Timothy Barnett to embark on a Fellowship to help close gaps in health outcomes between Indigenous and non-indigenous kids ...

• 1. Telethon Kids Institute
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• News & Events at Telethon Kids
• 2017
• March

Gina Matt Francis Trapp Cooper Mitrou GT MC FG BHSc(Hons1A), RPHNutr, PhD BCA Marketing, BSc Statistics and Applied Statistics, PhD BEc ARC DECRA ...

• 1. Telethon Kids Institute
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Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020